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Congenital cataract

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https://www.readbyqxmd.com/read/28712726/sengers-syndrome-associated-mitochondrial-acylglycerol-kinase-is-a-subunit-of-the-human-tim22-protein-import-complex
#1
Yilin Kang, David A Stroud, Michael J Baker, David P De Souza, Ann E Frazier, Michael Liem, Dedreia Tull, Suresh Mathivanan, Malcolm J McConville, David R Thorburn, Michael T Ryan, Diana Stojanovski
Acylglycerol kinase (AGK) is a mitochondrial lipid kinase that catalyzes the phosphorylation of monoacylglycerol and diacylglycerol to lysophosphatidic acid and phosphatidic acid, respectively. Mutations in AGK cause Sengers syndrome, which is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Here we identified AGK as a subunit of the mitochondrial TIM22 protein import complex. We show that AGK functions in a kinase-independent manner to maintain the integrity of the TIM22 complex, where it facilitates the import and assembly of mitochondrial carrier proteins...
July 11, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28693526/height-weight-and-body-mass-index-of-children-with-congenital-cataracts-before-surgical-treatment
#2
Jingjing Chen, Duoru Lin, Zhuoling Lin, Xiaoyan Li, Qianzhong Cao, Zhenzhen Liu, Erping Long, Xiaohang Wu, Li Zhang, Xiaojia Zhou, Lisha Wang, Jing Li, Jun Fu, Haotian Lin, Weirong Chen, Yizhi Liu
BACKGROUND: To investigate the distribution of the height, weight and body mass index (BMI) of children with congenital cataracts (CC) before surgical treatment. METHODS: This prospective study included children with CC ≤14 years of age presenting at the Zhongshan Ophthalmic Center from Jan. 2013 to Aug. 2016. The height, weight, and BMI measurements of all participating children were obtained and compared with the World Health Organization Child Growth Reference (WHO Reference), matched by age and gender...
July 11, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28690483/novel-mutations-in-the-crystallin-gene-in-age-related-cataract-patients-from-a-north-indian-population
#3
Rashmi Patel, Ravish K Zenith, Abhishek Chandra, Akhtar Ali
Cataract is the most prevalent leading cause of visual impairment and blindness worldwide. In comparison to congenital cataract, which affects relatively few individuals, age-related cataract is responsible for slightly half of all cases of blindness worldwide. Although significant work has been done, the genetic aspect of age-related cataract is still in its infancy. The current study was performed to analyze the mutations and polymorphisms in the CRYAA, CRYAB, CRYBB1, and GJA8 genes in 40 unrelated age-related cataract patients...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28683140/morgagnian-cataract-resulting-from-a-naturally-occurring-nonsense-mutation-elucidates-a-role-of-cpamd8-in-mammalian-lens-development
#4
Anne K Hollmann, Insa Dammann, Wiebke M Wemheuer, Wilhelm E Wemheuer, Almuth Chilla, Andrea Tipold, Walter J Schulz-Schaeffer, Julia Beck, Ekkehard Schütz, Bertram Brenig
To investigate the genetic basis of hereditary lens opacities we analyzed 31 cases of bilateral congenital cataract in Red Holstein Friesian cattle. A genome-wide association study revealed a significant association on bovine chromosome 7 at positions 6,166,179 and 12,429,691. Whole genome re-sequencing of one case and four relatives showed a nonsense mutation (g.5995966C>T) in the PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8) gene leading to a premature stop codon (CPAMD8 p.Gln74*) associated with cataract development in cattle...
2017: PloS One
https://www.readbyqxmd.com/read/28682562/-renal-diseases-related-to-myh9-disorders
#5
Dario Galeano, Luca Zanoli, Vincenzo L'Imperio, Pasquale Fatuzzo, Antonio Granata
Mutations in MYH9 gene encoding the nonmuscle myosin heavy chain IIA (NMMHC-IIA) are related to a number of rare autosomal-dominant disorders which has been known as May-Hegglin disease, Sebastian syndrome, Fechtner syndrome and Epstein syndrome. Their common clinical features are congenital macrothrombocytopaenia and polymorphonuclear inclusion bodies, in addition to a variable risk of developing proteinuria, chronic kidney disease progressing toward end stage, sensorineural deafness and presenile cataracts...
April 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28680631/surgical-medical-and-developmental-outcomes-in-patients-with-down-syndrome-and-cataracts
#6
Stephanie L Santoro, Dema Atoum, Robert B Hufnagel, William W Motley
BACKGROUND: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. MATERIALS AND METHODS: Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. A total of 47 patients with Down syndrome without cataracts were used as a developmental control...
2017: SAGE Open Medicine
https://www.readbyqxmd.com/read/28676040/congenital-aniridia-with-cataract-case-series
#7
Jin Da Wang, Jing Shang Zhang, Ying Xiong, Jing Li, Xiao Xia Li, Xue Liu, Jing Zhao, Frank F Tsai, Jhanji Vishal, Qi Sheng You, Yao Huang, Xiu Hua Wan
BACKGROUND: This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS: In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A continuous circular capsulorhexis with <6 mm diameter was employed. A capsular tension ring and HOYA yellow foldable posterior chamber intraocular lens was implanted...
July 4, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28673550/a-rare-case-of-sterol-c4-methyl-oxidase-deficiency-in-a-young-italian-male-biochemical-and-molecular-characterization
#8
Giulia Frisso, Monica Gelzo, Elena Procopio, Concetta Sica, Maria Pia Lenza, Antonio Dello Russo, Maria Alice Donati, Francesco Salvatore, Gaetano Corso
Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral congenital cataracts, growth delay, psoriasiform dermatitis, immune dysfunction, and intellectual disability. Herein, we describe a new case of SC4MOL deficiency in which a 19-year-old Italian male was affected by bilateral congenital cataracts, growth delay and learning disabilities, behavioral disorders and small stature, but not microcephaly...
June 27, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28671922/a-case-of-bilateral-pigment-dispersion-syndrome-following-many-years-of-uninterrupted-treatment-with-atropine-1-for-bilateral-congenital-cataracts
#9
Corrado Gizzi, Jibran Mohamed-Noriega, Ian Murdoch
PURPOSE: Describe an unusual case of bilateral pigment dispersion syndrome (PDS) following years of uninterrupted treatment with atropine 1% for bilateral congenital cataracts, speculate on potential mechanisms leading to this condition. DESIGN: This is a case report. CASE: A 45-year-old white patient on long-term treatment with atropine 1% ointment since his infancy for bilateral congenital cataracts developed PDS with secondary ocular hypertension...
June 30, 2017: Journal of Glaucoma
https://www.readbyqxmd.com/read/28669993/the-5-phosphatase-ocrl-in-lowe-syndrome-and-dent-disease-2
#10
REVIEW
Maria Antonietta De Matteis, Leopoldo Staiano, Francesco Emma, Olivier Devuyst
Lowe syndrome is an X-linked disease that is characterized by congenital cataracts, central hypotonia, intellectual disability and renal Fanconi syndrome. The disease is caused by mutations in OCRL, which encodes an inositol polyphosphate 5-phosphatase (OCRL) that acts on phosphoinositides - quantitatively minor constituents of cell membranes that are nonetheless pivotal regulators of intracellular trafficking. In this Review we summarize the considerable progress made over the past decade in understanding the cellular roles of OCRL in regulating phosphoinositide balance along the endolysosomal pathway, a fundamental system for the reabsorption of proteins and solutes by proximal tubular cells...
August 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28652825/a-familial-study-of-hallermann-streiff-fran%C3%A3-ois-syndrome
#11
E Epée, D Beleho, A T Bitang, V A Njami, C Bengondo, Côme Ebana Mvogo
Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract, and bilateral microphthalmia. The discussion is based on the clinical and genetic aspects, and the challenges in management of this oculo-mandibulo-facial syndrome...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28652574/clinical-features-of-congenital-and-developmental-cataract-in-east-china-a-five-year-retrospective-review
#12
Xiangjia Zhu, Yu Du, Wenwen He, Ting Sun, Yinglei Zhang, Ruiqi Chang, Keke Zhang, Yi Lu
Congenital/developmental cataract is a significant cause of blindness in children worldwide. Full knowledge of clinical features is essential for early diagnosis and proper treatment to prevent irreversible visual impairment. We conducted a retrospective chart review on 520 congenital/developmental cataract cases based on a five-year clinical data from Eye and ENT Hospital of Fudan University, Shanghai, China. Clinical features including age at the surgery, chief complaints, interval between initial identification of cataract-related manifestations and surgery, etc...
June 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28640093/correlations-of-single-nucleotide-polymorphisms-of-cryaa-and-cryab-genes-with-the-risk-and-clinicopathological-features-of-children-suffering-from-congenital-cataract
#13
Xian-Jin Cui, Feng-Yan Lv, Feng-Hua Li, Kun Zeng
BACKGROUND: The study aims to explore the correlations of the single nucleotide polymorphisms (SNPs) of CRYAA and CRYAB with the risk and clinicopathological features of children with congenital cataract. METHODS: The study enrolled 168 children diagnosed as congenital cataract (case group) and 172 normal children (control group) from May 2015 to May 2016. Genomic DNA extraction was performed using a QIAamp DNA blood mini kit. Polymerase chain reaction (PCR) products were genotyped using an ABI direct sequencer...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28639450/-bilateral-congenital-multiple-pigmented-vitreous-cysts-in-a%C3%A2-three-year-old-girl-ten-years-follow-up
#14
J Štěpánková, M Hósová, D Dotřelová
The authors present a case report of a three-year-old female patient with bilateral multiple anterior vitreous cysts. During examination for intermittent esotropia of the right eye was diagnosed not only hypermetropia, astigmatism and anisometropia, but also pigmented changes in peripheral retrolental space of both eyes. Clinical examination under general anaesthesia revealed bilateral multiple pigmented immobile vitreous cysts. There were five almost spherical, translucent, but slightly pigmented cysts on its cover on the right eye and four similar on the left, but visible only with dilated pupils...
2017: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#15
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28633137/incidence-and-characteristics-of-congenital-cataract-surgery-in-france-from-2010-to-2012-the-episafe-program
#16
Vincent Daien, Annick Le Pape, Didier Heve, Max Villain, Dominique Bremond Gignac
INTRODUCTION: Prevention of visual impairment due to congenital cataract is an international priority as part of VISION 2020 - The Right to Sight, the joint initiative of the World Health Organization and the International Agency for the Prevention of Blindness. The present study is part of the Epidemiology and Safety (EPISAFE) collaborative program aiming at assessing the epidemiology and safety of interventions in ophthalmology. METHODS: All children who underwent cataract surgery before the age of 1 year in France between January 2010 and December 2012 were identified by using the Programme de Médicalisation des Systèmes d'Information...
2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28624226/transcriptome-wide-investigation-of-mrna-circrna-in-mir-184-and-its-r-57c-u-mutant-type-treatment-of-human-lens-epithelial-cells
#17
Yueqiu Luo, Siyu Liu, Ke Yao
m-miR-184 (mutant miR-184, r.57c > u) appears in familial hereditary ocular diseases, including keratoconus, cataracts, EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning) syndrome, severe keratoconus, and non-ectatic corneal thinning. The biological function of m-miR-184 in these ocular diseases remains unclear. With the emergence of high-throughput sequencing, it is now possible to discover many different biological components simultaneously. Using two different RNA libraries, we sequenced the complete transcriptome of HLE cells treated with miR-184, m-miR-184, and a negative control...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28617521/regular-versus-releasable-sutures-in-surgery-for-primary-congenital-glaucoma
#18
Nader H Bayoumi
PURPOSE: To compare releasable and regular sutures in combined angle and filtering surgery for primary congenital glaucoma. METHODS: A prospective study was conducted on 39 eyes (26 right eyes) of 39 children (20 boys; 19 girls) who had primary congenital glaucoma treated with combined trabeculotomy-trabeculectomy with mitomycin C and scleral flap closure with regular or releasable sutures. Follow-up was 24 months. Success rates (defined as an intraocular pressure [IOP] < 16 mm Hg without hypotony-related complications and/or lack of IOP-related progression of the disease) were studied and complications were noted...
June 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28612950/the-paediatric-cataract-register-pecare-an-overview-of-operated-childhood-cataract-in-sweden-and-denmark
#19
Gunilla Magnusson, Birgitte Haargaard, Saima Basit, Anna Lundvall, Alf Nyström, Annika Rosensvärd, Kristina Tornqvist
AIM: To report basic epidemiological data concerning surgically treated childhood cataract in Sweden and Denmark. METHODS: Data were derived from the Paediatric Cataract Register (PECARE), a binational, web-based surgical register representing Sweden and Denmark. All children operated before 8 years of age between 1 January 2007 and 31 December 2013 were included. Age-specific prevalence per 100 000 population was calculated. RESULTS: A total 574 operations in 213 boys (51...
June 14, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#20
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
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